Ontology highlight
ABSTRACT:
SUBMITTER: Puiu M
PROVIDER: S-EPMC3603921 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
BMJ case reports 20130109
Mucopolysaccharidosis II (Hunter syndrome) is a rare x-linked disorder caused by a deficiency in the lysosomal enzyme iduronate-2-sulphatase, leading to an accumulation of the glycosaminoglycans (GAGs) dermatansulphate and heparan sulphate. The consequence of GAGs accumulation is progressive, multiorgan disease. Enzyme-replacement therapy is hypothesised to result in disease stabilisation and improved prognosis. We present a severe case of Hunter syndrome diagnosed at age 2 years and 4 months, w ...[more]